Article
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
Hormone research - 1 Jan 1996
Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet J M, Maroteaux P, Le Merrer M, Munnich A
Abstract excerpt
Achondroplasia (ACH), the most common cause of chondrodysplasia in man (1 in 15,000 live births), is an autosomal dominant condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. Recently, a gene for ACH has been mapped to chromosome 4p16.3. The genetic interval encom...
Topics
- Achondroplasia
- Amino Acid Sequence
- Animals
- Cartilage, Articular
- Chickens
- Chromosome Mapping
- Chromosomes, Human, Pair 4
- Fibroblast Growth Factors
- Humans
- Mice
- Molecular Sequence Data
- Mutation
- Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 3
- Receptors, Fibroblast Growth Factor
- Sequence Homology, Amino Acid